Concepedia

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

Frank Oeffner, Gayle Fischer, Rudolf Happle, Arne König, Regina C. Betz, Dorothea Bornholdt, Ulrike Neidel, María del Carmen Boente, Silke Redler, Javier Romero-Gomez,

The American Journal of Human Genetics · 2009 · 153 citations · 21 references

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21

Merlin—rapid analysis of dense genetic maps using sparse gene flow trees

Gonçalo R. Abecasis, Stacey S. Cherny, William Cookson et al. · Nature Genetics · 2001 · 3.4K citations

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PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis

Jeffrey R. O'Connell, Daniel E. Weeks · The American Journal of Human Genetics · 1998 · 2.1K citations · Full text

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ER Stress Induces Cleavage of Membrane-Bound ATF6 by the Same Proteases that Process SREBPs

Jin Ye, Robert B. Rawson, Ryutaro Komuro et al. · Molecular Cell · 2000 · 1.8K citations · Full text

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Sterol-Regulated Release of SREBP-2 from Cell Membranes Requires Two Sequential Cleavages, One Within a Transmembrane Segment

Juro Sakai, Elizabeth A. Duncan, Robert B. Rawson et al. · Cell · 1996 · 530 citations · Full text

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Complementation Cloning of , a Gene Encoding a Putative Metalloprotease Required for Intramembrane Cleavage of SREBPs

Robert B. Rawson, Nikolai G. Zelenski, Deepak Nijhawan et al. · Molecular Cell · 1997 · 460 citations · Full text

, , +15